High-Throughput Genetic Screening of 51 Pediatric Cataract Genes Identifies Causative Mutations in Inherited Pediatric Cataract in South Eastern Australia
对 51 个儿童白内障基因进行高通量基因筛查,鉴定出澳大利亚东南部遗传性儿童白内障的致病突变
期刊:G3-Genes Genomes Genetics
影响因子:2.2
doi:10.1534/g3.117.300109
Javadiyan, Shari; Craig, Jamie E; Souzeau, Emmanuelle; Sharma, Shiwani; Lower, Karen M; Mackey, David A; Staffieri, Sandra E; Elder, James E; Taranath, Deepa; Straga, Tania; Black, Joanna; Pater, John; Casey, Theresa; Hewitt, Alex W; Burdon, Kathryn P